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A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

BACKGROUND: Activating mutations of the thyroid stimulating hormone receptor gene (TSHR) are rare in the neonate and in the pediatric population. They are usually present in the germline, and are either inherited or occur de novo. Somatic mutations in TSHR are unusual in the pediatric population. ME...

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Hlavní autoři: Kohn, Brenda, Grasberger, Helmut, Lam, Leslie L., Ferrara, Alfonso Massimiliano, Refetoff, Samuel
Médium: Artigo
Jazyk:Inglês
Vydáno: Mary Ann Liebert, Inc. 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858372/
https://ncbi.nlm.nih.gov/pubmed/19191749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2008.0302
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